(used for variant description)
(last modified February 13, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_000595.3 in the LTA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering LTA transcript NM_000595.3.
(upstream sequence)
. . . . g.5237
gcacagcaggtgaggctctcctgccccatctccttgggctgc c.-121
. . . . . . g.5297
ccgtgcttcgtgctttggactaccgcccagcagtgtcctgccctctgcctgggcctcggt c.-61
. . . . . . | 02 g.5644
ccctcctgcacctgctgcctggatccccggcctgcctgggcctgggccttg | gttctcccc c.-1
. . . . . . g.5704
ATGACACCACCTGAACGTCTCTTCCTCCCAAGGGTGTGTGGCACCACCCTACACCTCCTC c.60
M T P P E R L F L P R V C G T T L H L L p.20
. . . | 03 . . g.5850
CTTCTGGGGCTGCTGCTGGTTCTGCTGCCTGGGGCCCAG | GGGCTCCCTGGTGTTGGCCTC c.120
L L G L L L V L L P G A Q | G L P G V G L p.40
. . . . . . g.5910
ACACCTTCAGCTGCCCAGACTGCCCGTCAGCACCCCAAGATGCATCTTGCCCACAGCACC c.180
T P S A A Q T A R Q H P K M H L A H S T p.60
. . | 04 . . . . g.6217
CTCAAACCTGCTGCTCACCTCATTG | GAGACCCCAGCAAGCAGAACTCACTGCTCTGGAGA c.240
L K P A A H L I G | D P S K Q N S L L W R p.80
. . . . . . g.6277
GCAAACACGGACCGTGCCTTCCTCCAGGATGGTTTCTCCTTGAGCAACAATTCTCTCCTG c.300
A N T D R A F L Q D G F S L S N N S L L p.100
. . . . . . g.6337
GTCCCCACCAGTGGCATCTACTTCGTCTACTCCCAGGTGGTCTTCTCTGGGAAAGCCTAC c.360
V P T S G I Y F V Y S Q V V F S G K A Y p.120
. . . . . . g.6397
TCTCCCAAGGCCACCTCCTCCCCACTCTACCTGGCCCATGAGGTCCAGCTCTTCTCCTCC c.420
S P K A T S S P L Y L A H E V Q L F S S p.140
. . . . . . g.6457
CAGTACCCCTTCCATGTGCCTCTCCTCAGCTCCCAGAAGATGGTGTATCCAGGGCTGCAG c.480
Q Y P F H V P L L S S Q K M V Y P G L Q p.160
. . . . . . g.6517
GAACCCTGGCTGCACTCGATGTACCACGGGGCTGCGTTCCAGCTCACCCAGGGAGACCAG c.540
E P W L H S M Y H G A A F Q L T Q G D Q p.180
. . . . . . g.6577
CTATCCACCCACACAGATGGCATCCCCCACCTAGTCCTCAGCCCTAGTACTGTCTTCTTT c.600
L S T H T D G I P H L V L S P S T V F F p.200
. g.6595
GGAGCCTTCGCTCTGTAG c.618
G A F A L X p.205
. . . . . . g.6655
aacttggaaaaatccagaaagaaaaaataattgatttcaagaccttctccccattctgcc c.*60
. . . . . . g.6715
tccattctgaccatttcaggggtcgtcaccacctctcctttggccattccaacagctcaa c.*120
. . . . . . g.6775
gtcttccctgatcaagtcaccggagctttcaaagaaggaattctaggcatcccaggggac c.*180
. . . . . . g.6835
cacacctccctgaaccatccctgatgtctgtctggctgaggatttcaagcctgcctagga c.*240
. . . . . . g.6895
attcccagcccaaagctgttggtctgtcccaccagctaggtggggcctagatccacacac c.*300
. . . . . . g.6955
agaggaagagcaggcacatggaggagcttgggggatgactagaggcagggaggggactat c.*360
. . . . . . g.7015
ttatgaaggcaaaaaaattaaattatttatttatggaggatggagagaggggaataatag c.*420
. . . . . . g.7075
aagaacatccaaggagaaacagagacaggcccaagagatgaagagtgagagggcatgcgc c.*480
. . . . . . g.7135
acaaggctgaccaagagagaaagaagtaggcatgagggatcacagggccccagaaggcag c.*540
. . . . . . g.7195
ggaaaggctctgaaagccagctgccgaccagagccccacacggaggcatctgcaccctcg c.*600
. . . g.7226
atgaagcccaataaacctcttttctctgaaa c.*631
(downstream sequence)
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